List of diseases covered by Congenital Myopathy and Distal Myopathy NGS panel

List of diseases covered by
Congenital Myopathy and Distal Myopathy NGS panel

Gene Condition
ACTA1 Congenital myopathy with fiber type disproportion;
Myopathy, scapulohumeroperoneal; Nemaline myopathy 3
ANO5 Limb-girdle muscular dystrophy, type 2L;
Miyoshi muscular dystrophy 3; Gnathodiaphyseal dysplasia
BAG3 Dilated cardiomyopathy 1HH; Myofibrillar myopathy, BAG3-related
BIN1 Autosomal recessive centronuclear myopathy
CAV3 Distal myopathy, Tateyama type;
Limb-girdle muscular dystrophy, type 1C; Rippling muscle disease;
Familial hypertrophic cardiomyopathy 1
CCDC78 Myopathy, centronuclear, 4
CFL2 Nemaline myopathy 7
CNTN1 Myopathy, congenital, compton-north
COL6A1 Bethlem myopathy 1; Ullrich congenital muscular dystrophy 1
COL6A3 Bethlem myopathy 1; Ullrich congenital muscular dystrophy 1; Dystonia 27
COL12A1 Bethlem myopathy 2; Ullrich congenital muscular dystrophy 2
CRYAB Alpha-B crystallinopathy;
Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related;
Dilated cardiomyopathy 1II
DES Myofibrillar myopathy 1; Muscular dystrophy, limb-girdle, type 2r;
Dilated cardiomyopathy 1I; Scapuloperoneal syndrome, neurogenic, Kaeser type
DNAJB6 Limb-girdle muscular dystrophy, type 1E
DNM2 Myopathy, centronuclear, 1;
DNM2-related intermediate Charcot-Marie-Tooth neuropathy;
Lethal congenital contracture syndrome 5
DYSF Myopathy, distal, with anterior tibial onset; Miyoshi muscular dystrophy 1;
Limb-girdle muscular dystrophy, type 2B
FHL1 Myopathy, reducing body, X-linked, early-onset, severe;
Myopathy, reducing body, X-linked, childhood-onset;
Scapuloperoneal myopathy, X-linked dominant;
Myopathy with postural muscle atrophy, X-linked
FLNC Myopathy, distal, 4; Myofibrillar myopathy, filamin C-related;
Cardiomyopathy, familial hypertrophic, 26
GNE Nonaka myopathy
KLHL40 Nemaline myopathy 8
KLHL41 Nemaline myopathy 9
LDB3 Myofibrillar myopathy, ZASP-related; Primary dilated cardiomyopathy
LMOD3 Nemaline myopathy 10
MATR3 Amyotrophic lateral sclerosis 21
MEGF10 Myopathy, areflexia, respiratory distress, and dysphagia, early-onset
MICU1 Myopathy with extrapyramidal signs
MTM1 Severe X-linked myotubular myopathy
MTMR14 Myopathy, centronuclear, 1
MYF6 Myopathy, centronuclear, 3
MYH7 Myosin storage myopathy; Myopathy, myosin storage, autosomal recessive;
Scapuloperoneal myopathy, MYH7-related; Myopathy, distal, 1;
Dilated cardiomyopathy 1S; Familial hypertrophic cardiomyopathy 1
MYOT Spheroid body myopathy; Myotilinopathy;
Limb-girdle muscular dystrophy, type 1A
NEB Nemaline myopathy 2
RYR1 Minicore myopathy with external ophthalmoplegia;
Central core disease; Malignant hyperthermia, susceptibility to, 1
SELENON Congenital myopathy with fiber type disproportion;
Eichsfeld type congenital muscular dystrophy
STAC3 Native American myopathy
SQSTM1 Distal myopathy with rimmed vacuoles;
Frontotemporal dementia and/or amyotrophic lateral sclerosis 3;
Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset
TIA1 Welander distal myopathy
TNNT1 Nemaline myopathy 5
TPM2 Nemaline myopathy 4;
Arthrogryposis multiplex congenita distal type 1; Distal arthrogryposis type 2B
TPM3 Nemaline myopathy 1; Congenital myopathy with fiber type disproportion
TTN Hereditary myopathy with early respiratory failure;
Myopathy, early-onset, with fatal cardiomyopathy;
Distal myopathy Markesbery-Griggs type;
Limb-girdle muscular dystrophy, type 2J;
Familial hypertrophic cardiomyopathy 9; Dilated cardiomyopathy 1G
VCP Inclusion body myopathy with early-onset
paget disease and frontotemporal dementia;
Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia;
Charcot-Marie-Tooth disease, axonal, type 2y

Congenital Myopathy and Distal Myopathy NGS panel

Congenital Myopathy and Distal Myopathy NGS panel has been added to Asper Neurogenetics portfolio. The new panel includes analysis of 43 genes linked to numerous types of myopathy. Learn more about test www.asperbio.com/congenital-myopathy-and-distal-myopathy

We would be very grateful for any comments on whether this panel can enhance your testing activities or additional genes/conditions should be involved in the panel. Contact us at info[at]asperbio.com and give your feedback.

Congenital Myopathy and Distal Myopathy NGS panel

Congenital Myopathy and Distal Myopathy
NGS panel

Genes: ACTA1, ANO5, BAG3, BIN1, CAV3, CCDC78, CFL2, CNTN1, COL6A1, COL6A3, COL12A1, CRYAB, DES, DNAJB6, DNM2, DYSF, FHL1, FLNC, GNE, KLHL40, KLHL41, LDB3, LMOD3, MATR3, MEGF10, MICU1, MTM1, MTMR14, MYF6, MYH7, MYOT, NEB, RYR1, SELENON, STAC3, SQSTM1, TIA1, TNNT1, TPM2, TPM3, TTN, VCP

List of diseases covered by the panel


Price / TAT: 1338 EUR / 6-9 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form

Deletion/duplication analysis 

Genes: MTM1, MTMR1

Lab method: MLPA

Price / TAT: 590 EUR / 4-6 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form